A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671718



Internal ID9591137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:64621..67995hg38UCSC Ensembl
chr4:64513..67887hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5794179, essv6116811, essv5926204, essv6416790, essv6470923, essv6503846, essv5446836, essv5710169, essv6313723, essv5782664, essv5928853, essv6291897, essv5894511, essv6239081, essv5461569, essv5956739, essv6313835, essv5471897, essv5575534, essv6257066, essv6396667, essv5508751, essv6301709, essv5939218, essv5498317, essv5676409, essv5982325, essv5966135, essv5481202, essv6032044, essv5745526, essv5567407, essv5959710, essv6018794, essv5756353, essv5448938, essv6264247, essv6446700, essv5856126, essv6122525, essv5600307, essv5994329, essv5490253, essv5603136, essv6079348, essv5645944, essv6230561, essv5426339, essv6453828, essv5493566, essv6322071, essv6299262, essv6157453, essv5457048, essv6160149, essv6049394, essv5670578, essv6129912, essv6405305, essv6305273, essv5648786, essv5451265, essv6056871, essv5998773, essv5838061, essv5999685, essv6325404, essv5606998, essv6220842, essv6416303, essv5704789, essv6361165, essv6266106, essv5665049, essv6256829, essv6482569, essv6163968, essv5509060, essv5528770, essv6575983, essv6397326, essv6583340, essv5397625, essv5833594, essv5985015, essv6045224, essv5638798, essv6125231, essv6131482, essv5944678, essv5648808, essv5866039, essv6285094, essv5774486, essv5719308, essv5813418, essv6495419, essv6463136, essv5791894, essv6509144, essv6231371, essv6445915, essv5464544, essv5701290, essv5970885, essv6387384, essv5538797, essv5765529, essv6566303, essv5791193, essv5928509, essv6336049, essv5476791, essv6505259, essv5472836, essv5629829, essv5673338, essv5710774, essv5920617, essv6296091, essv5947228, essv6319177, essv5818771, essv6347959, essv5481872, essv6228438, essv5812767, essv5542827, essv5420206, essv6044165, essv6564689, essv6442307, essv6186654, essv5468320, essv6281606, essv5835205, essv6033615, essv5784058, essv6164250, essv6441430, essv6363383, essv5789828, essv5506997, essv5832830, essv5784054, essv6427287, essv6320807, essv5402345, essv5495749, essv5781780, essv6568878, essv5471350, essv5861001, essv6169680, essv6516130, essv5817000, essv5703038, essv6203672, essv6493253, essv5730614, essv6120350, essv6288112, essv5699729, essv5881309, essv6003531, essv5748446, essv5955579, essv5931498, essv5433016, essv6116041, essv6561039, essv5747494, essv6207440, essv5906424, essv6456678, essv6481147, essv6184492, essv6193572, essv6418455, essv5621479, essv5846975, essv6442037, essv6267069, essv6220855, essv5410779, essv6173528, essv6116393, essv6153962, essv5973007, essv5464880, essv6331082, essv6417758, essv6387410, essv6516542, essv5990509, essv6138309, essv5891838, essv6102828, essv6294399, essv6384638, essv6150058, essv6568221, essv6027111, essv6251709, essv5828580, essv5867668, essv6452175, essv5856918, essv6098731, essv6597028
SamplesHG01357, HG00613, HG01441, NA19312, NA12718, HG00152, HG00734, HG01359, HG00252, HG01440, NA20787, NA12748, NA18595, HG00182, NA18951, NA20809, NA20503, HG01353, NA18871, HG01052, NA12286, HG00100, HG01075, NA12342, HG00328, NA18952, NA07056, NA11920, HG00369, HG00731, NA19783, NA19003, NA06989, HG01079, NA10847, NA18603, NA20775, NA18948, NA19670, NA19359, HG01051, HG00117, HG01492, HG01082, NA18953, NA20816, HG01174, HG00173, HG00326, NA19920, NA19782, HG00270, NA12005, NA19461, HG00190, HG00106, NA12058, NA20805, HG00111, HG00334, NA19648, NA20314, HG00651, HG00280, HG01101, HG01134, HG00366, HG00578, HG00177, NA20798, HG00319, HG00253, HG01551, HG01171, NA18596, HG00269, HG01133, HG00256, HG00266, HG00154, NA19726, NA19067, NA20505, NA20533, HG01384, NA18624, HG01456, NA19059, NA20356, NA11994, NA19917, NA19660, NA19443, NA19471, NA20757, HG01048, NA20801, HG01124, HG00330, NA07048, NA19908, HG00258, NA11843, NA11831, HG01113, NA18973, HG00264, NA19658, HG00276, HG01187, HG00133, NA18539, NA20773, NA20769, NA19360, HG00159, HG00267, HG01111, HG01437, HG00124, NA19785, HG00108, NA19374, HG00640, NA20512, NA12778, HG00325, NA20790, HG00185, NA18923, NA20795, NA20826, NA20334, HG00176, HG01073, HG00672, NA19901, HG00232, HG01069, HG01176, HG01356, HG00103, HG01080, NA19332, NA18988, HG00153, HG00246, NA19328, HG01060, NA19382, NA19318, NA20813, NA18985, HG01137, HG00590, NA12272, HG01095, HG00181, HG01334, NA20799, NA06984, NA12413, NA18565, NA12889, NA18560, HG01112, NA19755, HG01390, NA20317, NA11830, NA12003, NA19064, HG00123, HG01464, NA19749, HG00285, NA12399, NA12546, NA18499, NA18610, NA20758, HG00367, NA18984, HG01125, NA11829, HG00251, NA19346, NA20768, HG00275, HG00324, NA18549, NA19350, HG01462, HG01489, NA19381, NA19473, NA18615, HG00143, HG00336, NA20772, HG00272, NA19092, HG00704, NA19385, NA19750, HG00278, HG00136, NA19065, HG01067, HG00312
Known GenesZNF595, ZNF718
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671718
Frequency
Sample Size1151
Observed Gain0
Observed Loss210
Observed Complex0
Frequencyn/a


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